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Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage

Effect of increased water intake on plasma copeptin in healthy adults

Purpose: Inter-individual variation in median plasma copeptin is associated with incident type 2 diabetes mellitus, progression of chronic kidney disease, and cardiovascular events. In this study, we examined whether 24-h urine osmolality was associated with plasma copeptin and whether increasing daily water intake could impact circulating plasma copeptin. Methods: This trial was a prospective stu

Fetal hemoglobin in umbilical cord blood in preeclamptic and normotensive pregnancies : A cross-sectional comparative study

Preeclampsia (PE) is associated with increased fetal hemoglobin (HbF) in the maternal circulation but its source is unknown. To investigate whether excessive HbF is produced in the placenta or the fetus, the concentration of HbF (cHbF) in the arterial and venous umbilical cord blood (UCB) was compared in 15825 normotensive and 444 PE pregnancies. The effect of fetal gender on cHbF was also evaluat

Human Primary Bone Marrow Mesenchymal Stromal Cells and Their in vitro Progenies Display Distinct Transcriptional Profile Signatures

Bone marrow mesenchymal stromal cells (BM-MSCs) are a rare population of cells that gives rise to skeletal tissues and the hematopoietic stroma in vivo. Recently, we have demonstrated that BM-MSCs fulfill stringent in vivo stem cell criteria when propagated as non-adherent mesenspheres but not as adherent-cultured cells. Motivated by these profound functional differences, the current study aimed t

Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X

Background: Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other than MMR proteins. Methods: We compared the expression patterns of cytokeratins (CK7 and CK20), mucins

Prognostic factors for change in self-reported anxiety and depression in spondyloarthritis patients : data from the population-based SpAScania cohort from southern Sweden

Objectives: Anxiety and depression symptoms are more common in patients with spondyloarthritis (SpA) than in the general population. This study describes prognostic factors for change in self-reported anxiety and depression over 2 years in a well-defined SpA cohort. Method: In 2009, 3716 adult patients from the SpAScania cohort received a postal questionnaire to assess quality of life (QoL) and ph

No independent association between pulse wave velocity and dementia : a population-based, prospective study

OBJECTIVE:: Carotid–femoral pulse wave velocity (CFPWV), a marker of aortic stiffness, has been associated with cognitive test results and markers of cerebral small vessel disease, but its association with dementia has not been studied in detail. Our aim was to assess the association of CFPWV with prevalent and incident dementia in a large population-based study. METHODS:: In total, CFPWV was meas

Interaction between genes and macronutrient intake on the risk of developing type 2 diabetes : Systematic review and findings from European Prospective Investigation into Cancer (EPIC)-InterAct

Background: Gene-diet interactions have been reported to contribute to the development of type 2 diabetes (T2D). However, to our knowledge, few examples have been consistently replicated to date. Objective: We aimed to identify existing evidence for genemacronutrient interactions and T2D and to examine the reported interactions in a large-scale study. Design: We systematically reviewed studies rep

Comparison of citrated and fresh whole blood for viscoelastic coagulation testing during elective neurosurgery

Background Previous viscoelastic haemostatic tests studies have often indicated a hypercoagulative test signal with citrated blood, which could influence clinical decision makings. Purpose The aim of this study was to compare fresh and citrated whole blood using two non-automated viscoelastic ROTEM and Sonoclot tests. Our hypothesis was that citrated blood would demonstrate a hypercoagulative resp

Consumption of fish is not associated with risk of differentiated thyroid carcinoma in the European prospective investigation into cancer and nutrition (EPIC) study

Background: Differentiated thyroid cancer (TC) is the most common endocrine cancer. Fish can be an important source of iodine and other micronutrients and contaminants that may affect the thyroid gland and TC risk. Objective: We prospectively evaluated the relations between the consumption of total fish and different fish types and shellfish and TC risk in the EPIC (European Prospective Investigat

Mapping of magnetic properties for simulations of high-Temperature electromagnetic applications

Purpose -The purpose of this paper is to investigate the added value of using temperature-dependent electric and magnetic properties in high-Temperature electromagnetic simulations. Design/methodology/approach - In this work, the electromagnetic properties of Domex 420, SSAB, have been characterized as a function of the temperature, from room temperature to 900°C. The measurement of the electric a

Predictive Modeling in Musculoskeletal Mechanobiology

This chapter provides an overview of the main concepts in mechanobiology and touches upon the experimental models that are most frequently used to study mechanobiology on a cell and tissue level. It focuses on the use of computational techniques and algorithms to simulate mechanobiological processes, and their prospective potential in clinical applications. It covers how computational algorithms h

Liposuction of postmastectomy arm lymphedema decreases the incidence of erysipelas

The objective of this study was to assess erysipelas incidence before and after liposuction treatment for patients suffering from post-mastectomy lymphedema. A prospective cohort study of 130 patients at Skåne University Hospital in Malmö, Sweden with postmastectomy arm lymphedema, who had poor outcomes from prior conservative treatment and clinical signs of subcutaneous adipose tissue hypertrophy

Molecular Epidemiology of Heart Failure : Translational Challenges and Opportunities

Heart failure (HF) is the end-stage of all heart disease and arguably constitutes the greatest unmet therapeutic need in cardiovascular medicine today. Classic epidemiological studies have established clinical risk factors for HF, but the cause remains poorly understood in many cases. Biochemical analyses of small case-control series and animal models have described a plethora of molecular charact

Association between plasma phospholipid saturated fatty acids and metabolic markers of lipid, hepatic, inflammation and glycaemic pathways in eight European countries : A cross-sectional analysis in the EPIC-InterAct study

Background: Accumulating evidence suggests that individual circulating saturated fatty acids (SFAs) are heterogeneous in their associations with cardio-metabolic diseases, but evidence about associations of SFAs with metabolic markers of different pathogenic pathways is limited. We aimed to examine the associations between plasma phospholipid SFAs and the metabolic markers of lipid, hepatic, glyca

Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

IMPORTANCE The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. OBJECTIVES To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location. DESIGN, SETTING, AND PARTICIPANTS Prospective cohort study of 6036 BRCA1 and

Identifying miRNA targets using AGO-RIPseq

microRNAs (miRNA) are small, noncoding RNAs that bind to messenger RNAs (mRNAs) and regulate their activity. They are, therefore, important posttranscriptional regulators. In recent years it has become clear that miRNAs regulate large genetic networks, rather than single genes, and that one gene can be targeted by several miRNAs. To understand the role of miRNAs in cells or tissues, it is therefor

Comprehensive Proteomic Characterization of Ontogenic Changes in Hematopoietic Stem and Progenitor Cells

Hematopoietic stem and progenitor cells (HSPCs) in the fetus and adult possess distinct molecular landscapes that regulate cell fate and change their susceptibility to initiation and progression of hematopoietic malignancies. Here, we applied in-depth quantitative proteomics to comprehensively describe and compare the proteome of fetal and adult HSPCs. Our data uncover a striking difference in com

Effects of hydration on plasma copeptin, glycemia and gluco-regulatory hormones : a water intervention in humans

Purpose: High plasma copeptin, a marker of vasopressin, predicts diabetes mellitus. We tested if copeptin could be suppressed by increased water intake in healthy individuals, and if a water-induced change in copeptin was accompanied by altered concentrations of glucose, insulin or glucagon. Methods: Thirty-nine healthy individuals underwent, in random order, 1 week of high water intake (3 L/day o

Epidemiology of primary systemic vasculitis in children : a population-based study from southern Sweden

Objectives: To estimate the annual incidence rate of paediatric primary systemic vasculitis (PSV) in a defined geographical area in southern Sweden. Methods: Potential cases of PSV [IgA vasculitis (IgAV, Henoch–Schönlein purpura), Kawasaki disease (KD), granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA), polyarteritis nodosa